regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BIN1_chr2_127043032_127112154 | 127105467 | C | CCCTCCTC others(11): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0076a0001c0001t0001g0078a0001c0001t0001g0079others(14): Show | 19 | 344 | 0.0552 | 18 | c.84+ others(33): Show |
BIN1 | ENSG00000136717.15 | transcript | ENST00000316724.10 | protein_coding | 1/18 | chr2 | TogoVar | ||||||
BIN2_chr12_51276038_51329174 | 51320934 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG01123.hp1 others(20): Show |
a0001a0003a0004 | a0001c0001a0001c0004a0003c0003others(2): Show | a0001c0001t0001a0001c0004t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0014a0001c0001t0001g0245a0001c0001t0001g0246others(19): Show | 23 | 400 | 0.0575 | 18 | c.81+ others(33): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 1/12 | chr12 | TogoVar | ||||||
BIRC2_chr11_102342214_102383670 | 102342340 | G | GTGTATTT others(11): Show |
upstream_gene_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 344 | 0.0029 | 18 | c.-62 others(29): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 4873 | chr11 | TogoVar | ||||||
BIRC2_chr11_102342214_102383670 | 102342344 | G | GTATATGT others(11): Show |
upstream_gene_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 344 | 0.0029 | 18 | c.-62 others(29): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 4869 | chr11 | TogoVar | ||||||
BIRC2_chr11_102342214_102383670 | 102364139 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 344 | 0.0029 | 18 | c.112 others(35): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BIRC2_chr11_102342214_102383670 | 102364172 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 344 | 0.0029 | 18 | c.112 others(35): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BIRC2_chr11_102342214_102383670 | 102364174 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 344 | 0.0029 | 18 | c.112 others(35): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BIRC2_chr11_102342214_102383670 | 102364174 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277a0001c0001t0001g0291 | 2 | 344 | 0.0058 | 18 | c.112 others(35): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BIRC2_chr11_102342214_102383670 | 102365743 | A | AGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG02280.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026a0001c0001t0002g0285a0001c0001t0002g0288others(1): Show | 5 | 344 | 0.0145 | 18 | c.112 others(37): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BIRC3_chr11_102312484_102344403 | 102342340 | G | GTGTATTT others(11): Show |
downstream_gene_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0012 | 1 | 384 | 0.0026 | 18 | c.*52 others(29): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 2938 | chr11 | TogoVar | ||||||
BIRC3_chr11_102312484_102344403 | 102342344 | G | GTATATAT others(11): Show |
downstream_gene_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 384 | 0.0026 | 18 | c.*52 others(29): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 2942 | chr11 | TogoVar | ||||||
BIRC3_chr11_102312484_102344403 | 102342344 | G | GTATATGT others(11): Show |
downstream_gene_variant | MODIFIER | HG01928.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0007 | 1 | 384 | 0.0026 | 18 | c.*52 others(29): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 2942 | chr11 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32397628 | A | ACACACAC others(11): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0162 | 1 | 274 | 0.0037 | 18 | c.103 others(37): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 6/73 | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32440751 | T | TTTATTAT others(11): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02922.hp1 HG03579.hp1 others(1): Show |
a0001a0004 | a0001c0006a0004c0019a0004c0047 | a0001c0006t0003a0004c0019t0003a0004c0047t0003 | a0001c0006t0003g0008a0004c0019t0003g0142a0004c0019t0003g0144others(1): Show | 4 | 274 | 0.0146 | 18 | c.381 others(35): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 16/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32460245 | G | GATATATA others(11): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0025 | 1 | 274 | 0.0037 | 18 | c.475 others(37): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32460272 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0105 | 1 | 274 | 0.0037 | 18 | c.475 others(37): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32532134 | C | CGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02293.hp1 HG02647.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0007others(2): Show | a0001c0001t0001a0001c0003t0003a0001c0007t0006others(2): Show | a0001c0001t0001g0215a0001c0001t0001g0234a0001c0001t0001g0246others(6): Show | 9 | 274 | 0.0329 | 18 | c.122 others(37): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 61/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32553197 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0229 | 1 | 274 | 0.0037 | 18 | c.131 others(39): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 65/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32578979 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03209.hp2 HG04199.hp2 others(1): Show |
a0001 | a0001c0001a0001c0018a0001c0031 | a0001c0001t0001a0001c0018t0005a0001c0031t0005 | a0001c0001t0001g0202a0001c0018t0005g0183a0001c0018t0005g0184others(1): Show | 4 | 274 | 0.0146 | 18 | c.133 others(39): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 66/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32578989 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG01261.hp2 others(5): Show |
a0001a0006 | a0001c0006a0006c0020 | a0001c0006t0003a0006c0020t0003 | a0001c0006t0003g0003a0001c0006t0003g0004a0001c0006t0003g0005others(5): Show | 8 | 274 | 0.0292 | 18 | c.133 others(39): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 66/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIVM_chr13_102794119_102846533 | 102833327 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00735.hp2 NA18952.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0033 | a0001c0001t0002g0013a0001c0001t0002g0090a0001c0001t0003g0259others(1): Show | 6 | 404 | 0.0149 | 18 | c.103 others(37): Show |
BIVM | ENSG00000134897.14 | transcript | ENST00000257336.6 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
BLK_chr8_11489387_11569599 | 11492900 | C | CTAAGCAC others(11): Show |
upstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0012 | a0001c0012t0017 | a0001c0012t0017g0295 | 1 | 308 | 0.0033 | 18 | c.-16 others(29): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 1486 | chr8 | TogoVar | ||||||
BLK_chr8_11489387_11569599 | 11504367 | G | GGAAGGAA others(11): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0288 | 1 | 308 | 0.0033 | 18 | c.-2+ others(33): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 1/12 | chr8 | TogoVar | ||||||
BLK_chr8_11489387_11569599 | 11531352 | T | TTCTATTC others(11): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp1 HG03669.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 3 | 308 | 0.0097 | 18 | c.-1- others(35): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90735236 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02559.hp2 NA18940.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0005a0004c0006t0002 | a0001c0001t0001g0082a0001c0001t0005g0050a0004c0006t0002g0029others(1): Show | 4 | 280 | 0.0143 | 18 | c.-4- others(35): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90789987 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | NA18940.hp2 NA18944.hp2 NA19064.hp1 |
a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0029a0004c0006t0002g0030a0004c0006t0002g0031 | 3 | 280 | 0.0107 | 18 | c.282 others(35): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BLNK_chr10_96184171_96276569 | 96194768 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0058 | 1 | 322 | 0.0031 | 18 | c.125 others(37): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 16/16 | chr10 | TogoVar | ||||||
BLOC1S2_chr10_100268293_100291680 | 100276359 | C | CCCTCTCC others(11): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 378 | 0.0027 | 18 | c.398 others(33): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 4/4 | chr10 | TogoVar | ||||||
BLOC1S2_chr10_100268293_100291680 | 100281705 | T | TATATACA others(11): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0231 | 1 | 378 | 0.0027 | 18 | c.173 others(33): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 2/4 | chr10 | TogoVar | ||||||
BLOC1S2_chr10_100268293_100291680 | 100281711 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG02280.hp2 NA18906.hp1 NA18978.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0245a0002c0002t0003g0246a0002c0002t0003g0247 | 3 | 378 | 0.0079 | 18 | c.173 others(33): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 2/4 | chr10 | TogoVar | ||||||
BLOC1S3_chr19_45173784_45186800 | 45180235 | A | ATTTTTTT others(11): Show |
3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0002 | 2 | 426 | 0.0047 | 18 | c.*33 others(27): Show |
BLOC1S3 | ENSG00000189114.8 | transcript | ENST00000433642.3 | protein_coding | 2/2 | 355 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
BLOC1S5_chr6_8008567_8069389 | 8047160 | T | TCTCTCTC others(11): Show |
intron_variant | MODIFIER | HG01175.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0145a0001c0001t0003g0244 | 2 | 364 | 0.0055 | 18 | c.196 others(35): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 2/4 | chr6 | TogoVar | ||||||
BLOC1S5_chr6_8008567_8069389 | 8047160 | T | TCTCTCTC others(11): Show |
intron_variant | MODIFIER | HG03490.hp1 HG04199.hp2 NA18960.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0210a0001c0001t0003g0225a0001c0001t0003g0238others(1): Show | 4 | 364 | 0.0110 | 18 | c.196 others(35): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 2/4 | chr6 | TogoVar | ||||||
BLOC1S5_chr6_8008567_8069389 | 8047160 | T | TCTCTCTC others(11): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0064 | 1 | 364 | 0.0028 | 18 | c.196 others(35): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 2/4 | chr6 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122262148 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0069 | 1 | 336 | 0.0030 | 18 | c.676 others(35): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 42/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BLTP1_chr4_122147331_122367752 | 122267051 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02922.hp1 HG03041.hp1 others(3): Show |
a0001a0006a0007 | a0001c0001a0006c0014a0007c0012 | a0001c0001t0001a0006c0014t0001a0007c0012t0001 | a0001c0001t0001g0119a0001c0001t0001g0122a0001c0001t0001g0124others(3): Show | 6 | 336 | 0.0179 | 18 | c.749 others(35): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 46/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BLTP1_chr4_122147331_122367752 | 122321979 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01081.hp2 HG01993.hp2 others(7): Show |
a0001a0002a0004 | a0001c0001a0002c0004a0004c0031 | a0001c0001t0001a0002c0004t0001a0004c0031t0001 | a0001c0001t0001g0141a0001c0001t0001g0155a0001c0001t0001g0181others(7): Show | 10 | 336 | 0.0298 | 18 | c.109 others(39): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 64/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BLTP3A_chr6_34787083_34882514 | 34792126 | T | TGGCGGCG others(11): Show |
5_prime_UTR_variant | MODIFIER | HG00558.hp1 HG00642.hp1 HG00673.hp1 others(46): Show |
a0002a0003a0004others(5): Show | a0002c0002a0003c0003a0003c0022others(9): Show | a0002c0002t0036a0003c0003t0003a0003c0003t0011others(12): Show | a0002c0002t0036g0095a0003c0003t0003g0004a0003c0003t0003g0102others(46): Show | 49 | 312 | 0.1571 | 18 | c.-11 others(27): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 1/21 | 109 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
BLTP3B_chr12_100032072_100147874 | 100140729 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0029 | 1 | 188 | 0.0053 | 18 | c.44+ others(33): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
BLVRB_chr19_40442768_40470745 | 40448608 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 362 | 0.0028 | 18 | c.464 others(33): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 4/4 | chr19 | TogoVar | ||||||
BLVRB_chr19_40442768_40470745 | 40448608 | A | ATAACAAC others(11): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0175 | 1 | 362 | 0.0028 | 18 | c.464 others(33): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 4/4 | chr19 | TogoVar | ||||||
BLVRB_chr19_40442768_40470745 | 40460245 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0162 | 1 | 362 | 0.0028 | 18 | c.80- others(33): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 1/4 | chr19 | TogoVar | ||||||
BLZF1_chr1_169363195_169393305 | 169375393 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01069.hp1 HG01167.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019a0001c0001t0002g0062a0001c0001t0002g0063others(2): Show | 7 | 366 | 0.0191 | 18 | c.29- others(33): Show |
BLZF1 | ENSG00000117475.14 | transcript | ENST00000367808.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BMAL1_chr11_13272790_13392266 | 13314229 | C | CCACACAC others(11): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02258.hp2 HG02818.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0059a0001c0001t0001g0077a0001c0001t0001g0216others(3): Show | 6 | 314 | 0.0191 | 18 | c.-19 others(37): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BMAL1_chr11_13272790_13392266 | 13325657 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02970.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0307 | 2 | 314 | 0.0064 | 18 | c.-18 others(35): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BMAL1_chr11_13272790_13392266 | 13325657 | T | TTGTGTTT others(11): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02896.hp1 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212a0001c0001t0001g0213a0001c0001t0001g0214others(1): Show | 4 | 314 | 0.0127 | 18 | c.-18 others(35): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BMAL1_chr11_13272790_13392266 | 13339430 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG03209.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0013 | 2 | 314 | 0.0064 | 18 | c.-13 others(39): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BMAL1_chr11_13272790_13392266 | 13365282 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 314 | 0.0032 | 18 | c.460 others(33): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BMAL2_chr12_27327836_27430286 | 27360803 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01069.hp2 HG01358.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(2): Show | a0001c0001t0001g0119a0001c0001t0001g0182a0001c0001t0001g0200others(9): Show | 12 | 310 | 0.0387 | 18 | c.32- others(33): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BMAL2_chr12_27327836_27430286 | 27420019 | G | GCGCGCGC others(11): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03209.hp2 HG03491.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0044a0002c0002t0007 | a0001c0001t0004g0048a0001c0001t0044g0097a0002c0002t0007g0006others(2): Show | 6 | 310 | 0.0194 | 18 | c.177 others(35): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |